Canonical Allele Identifier: CA4936178
Gene: HSF1 HGNC NCBI

Linked Data

dbSNP Id: rs78202224
ExAC: 8:145535881 C / A
gnomAD v2: 8-145535881-C-A
gnomAD v3: 8-144312195-C-A
gnomAD v4: 8-144312195-C-A
MyVariant Identifiers: chr8:g.145535881C>A (hg19) chr8:g.144312195C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144312195C>A , CM000670.2:g.144312195C>A GRCh38
NC_000008.10:g.145535881C>A , CM000670.1:g.145535881C>A GRCh37
NC_000008.9:g.145506689C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000528838.6:c.1093C>A MANE Select ENSP00000431512.1:p.Pro365Thr
ENST00000400780.8:c.1093C>A ENSP00000383590.5:p.Pro365Thr
ENST00000527328.5:n.1380C>A
ENST00000528838.5:c.1093C>A ENSP00000431512.1:p.Pro365Thr
ENST00000530661.1:c.125C>A ENSP00000480423.1:p.Pro42His
ENST00000532338.5:n.2565C>A
NM_005526.2:c.1093C>A NP_005517.1:p.Pro365Thr
XM_005272315.1:c.1093C>A XP_005272372.1:p.Pro365Thr
XM_005272316.1:c.1093C>A XP_005272373.1:p.Pro365Thr
XM_005272317.1:c.914C>A XP_005272374.1:p.Pro305His
XM_011517004.1:c.460C>A XP_011515306.1:p.Pro154Thr
XM_011517006.1:c.238C>A XP_011515308.1:p.Pro80Thr
XR_246618.2:n.1084C>A
NM_005526.3:c.1093C>A NP_005517.1:p.Pro365Thr
XM_005272315.3:c.1093C>A XP_005272372.1:p.Pro365Thr
XM_005272316.3:c.1093C>A XP_005272373.1:p.Pro365Thr
XM_005272317.2:c.914C>A XP_005272374.1:p.Pro305His
XM_011517004.2:c.460C>A XP_011515306.1:p.Pro154Thr
XM_011517006.2:c.238C>A XP_011515308.1:p.Pro80Thr
XM_017013377.2:c.1093C>A XP_016868866.1:p.Pro365Thr
XM_024447144.1:c.460C>A XP_024302912.1:p.Pro154Thr
XR_001745526.2:n.1069C>A
XR_001745527.2:n.1289C>A
XR_246618.4:n.1069C>A
NM_005526.4:c.1093C>A MANE Select NP_005517.1:p.Pro365Thr
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